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myasthenia, congenital, refractory to acetylcholinesterase inhibitors - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myasthenia, congenital, refractory to acetylcholinesterase inhibitors

MONDO:0009687

Overview

GeneticsAutosomal recessive

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Fatigable weakness, Abnormality of metabolism/homeostasis, Congenital ptosis, and Proximal muscle weakness and 1 more.

Organ System	Phenotype Count	Example Features
Muscles	2	Fatigable weakness, Proximal muscle weakness
Metabolism

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for myasthenia, congenital, refractory to acetylcholinesterase inhibitors.

3 publications have been identified in PubMed for myasthenia, congenital, refractory to acetylcholinesterase inhibitors. Research spans Epidemiology / Natural History (67%) and Case Report / Case Series (33%).

Recent Publications

Lin J (2026). [PMID: 41476025](https://pubmed.ncbi.nlm.nih.gov/41476025/). *Brain Behav*. [Epidemiology / Natural History]
AlHabsi R (2025). [PMID: 39902012](https://pubmed.ncbi.nlm.nih.gov/39902012/). *Cureus*. [Case Report / Case Series]
Zhou J (2025). [PMID: 40489715](https://pubmed.ncbi.nlm.nih.gov/40489715/). *Neurology*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:254190

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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myasthenia, congenital, refractory to acetylcholinesterase inhibitors

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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